rs149989682(A;T)
From SNPedia
| Carrier of severe neonatal mutation, for surfactant metabolism dysfunction |
| Is a | genotype |
| of | rs149989682 |
| Gene | ABCA3 |
| Chromosome | 16 |
| Position | 2,317,763 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 9 | Surfactant metabolism dysfunction, pulmonary, 3; severe neonatal condition |
| (A;T) | 3 | Carrier of severe neonatal mutation, for surfactant metabolism dysfunction |
| (T;T) | 0 | common in clinvar |
Unaffected in absence of another pathogenic ABCA3 mutation; see rs149989682
